Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III.
D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D006801:Humans; D009083:Mucopolysaccharidoses / Q000175:diagnosis*; D009084:Mucopolysaccharidosis III / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D013429:Sulfatases / Q000172:deficiency
D013429:Sulfatases; C018719:N-acetylglucosamine-6-sulfatase